Hydatid disease of the breast: a case report and literature review

Hydatid disease of the breast is rare. However, it might constitute a potentially serious differential diagnosis of a breast lump in areas endemic for this disease. Fine-needle aspiration cytology provides a safe preoperative diagnosis. A case of an isolated breast involvement that was diagnosed during surgery is presented and is followed by a brief discussion on the topic.     

Kawasaki disease in the adult: a case report and review of the literature

Kawasaki disease, predominantly a disease of childhood, includes such symptoms as acute vasculitis, mucosal inflammation, rash, cervical adenopathy, and edema. Its most severe forms are associated with coronary artery aneurysms. We report a rare case of this disease in an asymptomatic adult and review its epidemiology, etiology, diagnosis, treatment, and prognosis.     

Systemic connective tissue disease complicated by Castleman's disease: report of a case and review of the literature

Castleman's disease is an atypical lymphoproliferative disorder characterized by the prevalence of B CD5-positive cells in the marginal zone. Autoimmune manifestations have often been reported, but the association of Castleman's disease with systemic autoimmune syndromes has been rarely described. However, many authors stress the difficulties in distinguishing between connective tissue disease and Castleman's disease in most cases. To clarify this issue, we describe a patient and review the literature reports of all cases of Castleman's disease associated with a connective tissue disease. A 19-year old woman presented with autoimmune thyroiditis and polymyositis. Seven years after the onset she developed a systemic inflammatory flare and a burst of autoimmunity, followed by generalized lymphoadenopathy. A mediastinal lymph node biopsy led to the diagnosis of Castleman disease of mixed type. Chemotherapy was given, with rapid response of the lymphoproliferative disorder but persistence of the underlying autoimmune disorder. The plasma concentration of B-lymphocyte stimulator (BLyS) was high (13.3 ng/mL) at the diagnosis of Castleman's disease. It fell dramatically after chemotherapy (4.97 ng/mL), even though it remained just above the mean BLyS value found in healthy blood donors (3.37+/-0.78 ng/mL).Castleman's disease can present autoimmune traits. In our patient, Castleman's disease complicated the course of a connective tissue disorder several years after the onset. We hypothesize that chronic stimulation of B-cell clones, particularly CD5+, by BLyS could favor the development of both autoimmune diseases and a broad range of lymphoproliferative disorders (such as Castleman's disease). This is the first report of increased BLyS levels in a patient with Castleman's disease, supporting a possible pathogenetic role of BLyS in the development of an autoimmune disorder and of a B lymphoproliferative disorder years later.     

Kikuchi's disease: a case report and literature review

Kikuchi-Fujimoto disease, also known as hystiocytic necrotizing lymphadenitis, is an unusual entity which affects predominantely young Asiatic females, although its distribution is world-wide. Cardinal symptoms are fever and adenopathy, generally cervical, although generalized and extraganglionar cases have been described. Considered a self-limiting disease, it has to be differentiated by pathologic analysis from other less-benign disorders such as lymphoma or histiocytoma, which bear worse prognosis and may require specific treatment. Although the origin of this disease is unknown, a viral origin is postulated and the immune system is involved Kikuchi disease has been associated to other entities such as subcutaneous lupus erythematosus, Hashimoto thyroiditis, etc... requiring that patients be followed immunologically alter diagnosis of this disease. We present a case of Kikuchi disease associated with subacute lymphocytic thyroiditis.     

Cowden's disease: a case report and literature review

Cowden's disease, or multiple hamartoma syndrome, is an uncommon condition with characteristic mucocutaneous lesions associated with abnormalities of the breast, thyroid, and gastrointestinal tract. We describe a 51-year-old man with hyperplastic polyposis of the entire alimentary tract as the most prominent feature of this disease. We also present a review of 85 cases of this entity as reported in the English medical literature, and summarize the pertinent findings.     

Systemic lupus erythematosus in a boy with chronic granulomatous disease: case report and review of the literature

We describe a patient with X-linked chronic granulomatous disease (CGD) who developed systemic lupus erythematosus, which was characterized by photosensitivity, malar rash, glomerulonephritis, leukopenia, hypocomplementemia, antinuclear antibodies, and anti-double-stranded DNA antibodies, at age 3. The patient's mother is an asymptomatic carrier of CGD, and her other son (the patient's half-brother) also has CGD. Neither the mother nor the brother has clinical or serologic evidence of systemic lupus erythematosus. Previous cases of discoid lupus-like skin lesions have been reported both in carriers and in patients with CGD. Our patient represents the first reported case of an individual with convincing clinical, serologic, and pathologic evidence of systemic lupus erythematosus. The association between defective host defense mechanisms and autoimmune phenomena has been described previously in patients with Job's syndrome and in patients with B cell and T cell deficiency disorders, including the acquired immunodeficiency syndrome. The relationship between the known leukocyte defects in CGD and the pathogenesis of a lupus-like illness is unclear.     

Bilateral breast MALT lymphoma: a case report and review of the literature

 Breast lymphoma is a rare disease. Both primary and secondary breast involvement have been reported. Most primary breast lymphomas are high-grade malignant neoplasms, mainly large cell and Burkitt type. Low-grade lymphomas of the breast, particularly mucosa-associated lymphoid tissue (MALT) lymphomas, have been exceedingly rare. In this report we present a patient with bilateral breast involvement by MALT lymphoma. Our patient developed localized MALT lymphoma in both breasts in a sequential fashion. She was treated with bilateral lumpectomy, followed by radiation therapy to both breasts. The patient is alive and well more than 1 year after therapy with no recurrence. We believe this is the first such case described in detail in the literature. Received: March 10, 1999 / Accepted: July 6, 1999     

Chlorambucil-induced pulmonary disease: a case report and review of the literature

 A 77-year-old man developed pneumonitis while on chlorambucil therapy for chronic lymphocytic leukemia, with a cumulative dose of 2700 mg. The condition improved promptly with the discontinuation of the drug and initiation of steroids. A case report and review of the literature are presented in this paper. Received: September 9, 1997 / Accepted: March 31, 1998     

Chronotropic incompetence in a young adult: case report and literature review

Chronotropic incompetence (CI) is the inability of heart rate response to meet metabolic demand. CI is associated with sinus node dysfunction, atrial fibrillation, or structural heart disease, and can lead to functional impairment. We report the case of a 34-year-old man with CI secondary to sinus node dysfunction who demonstrated significant improvement in functional capacity with rate-responsive pacing. Therapy for CI should be guided by the treatment of the underlying cause with consideration for rate-responsive pacing in symptomatic patients. The prognosis of CI is variable and dependent on underlying etiology.     

Systemic AL amyloidosis in Gaucher disease. A case report and review of the literature

Chronic Gaucher disease [GD] in association with systemic AL amyloidosis is extremely rare. We describe a 46-year-old Greek male with chronic GD confirmed by low glucocerebroside activity in fibroblasts and N370S/L444P mutations at the cerebrosidase gene, who also had systemic AL amyloidosis diagnosed by bone marrow diffuse plasmacytosis, serum monoclonal IgA-lambda, severe total proteinuria with monoclonal IgA-lambda, Bence-Jones-lambda and amyloid deposits in bone marrow, liver, spleen and kidney biopsy specimens. Treatment with melphalan and prednizolon has dramatically decreased both levels of serum M-IgA and proteinuria and also improved the clinical symptoms of amyloidosis. He died from restrictive cardiac disease 30 months after the diagnosis of amyloidosis. Previously reported cases of GD in association with AL amyloidosis are reviewed.     

系统性红斑狼疮并发肺动脉高压1例并文献复习

目的提高对系统性红斑狼疮（SLE）并发肺动脉高压（PHT）的发病机制、临床表现、治疗及预后的认识。方法对1例并发PHT的SLE病例进行分析和讨论,并结合相关文献复习。结果SLE并发PHT的机制尚不明确。其临床表现无特异性,早期症状多为呼吸困难。SLE患者出现雷诺征时,应高度怀疑PHT的存在。大剂量糖皮质激素联合免疫抑制剂可显著降低PHT。结论SLE并发PHT常提示预后不良,应尽早诊断及治疗。针对原发病的强化治疗可有效降低PHT。     

Kimura's disease: case report and review of the literature

Kimura's disease is a rare, chronic inflammatory disease characterized by subcutaneous nodules in the head and neck regions associated with regional cervical lymphadenopathy. Following its recognition as a pathologic entity, numerous reports have been published detailing the pathogenesis, radiologic manifestations, and treatment modalities. An extensive review of the literature did not reveal any cases of diffuse thoraco-abdominal lymphadenopathy described in relation to Kimura's disease. Hence, the interest in the case discussed here.     

Systemic lupus erythematosus and thrombotic thrombocytopenic purpura: a case report and literature review

We describe a patient with systemic lupus erythematosus (SLE) who developed severe and acute thrombotic thrombocytopenic purpura (TTP). Detection of the fragmentation of peripheral red blood cells (RBC) helped the early diagnosis of TTP and the patient was rescued by extensive plasma exchange started promptly after the diagnosis. Because manifestations of TTP are similar to those in SLE, it is sometimes difficult to make an accurate diagnosis of TTP in SLE patients. We emphasise here the significance of the early diagnosis of TTP by the observation of fragmented RBC and the intensive therapy, including plasma exchange, for this very severe condition.     

ALK-negative lung inflammatory myofibroblastic tumor in a young adult: A case report and literature review of molecular alterations

Rationale:Inflammatory myofibroblastic tumor (IMT) is a rare mesenchymal tumor that is prevalent among children and adolescents. Surgery is the most important therapeutic approach for IMT and complete resection is recommended. Although 50% of IMTs show anaplastic lymphoma kinase (ALK) rearrangements, crizotinib has proven an effective therapeutic approach. However, the genetic landscape of this tumor is still not fully understood and treatment options are limited, especially in the majority of ALK-negative tumors.Patient concerns:We describe the clinical case of a healthy 18-year-old female in whom a pulmonary nodule was incidentally detectedDiagnoses:Following a small increase in the size of the nodule, the patient underwent both ¹⁸FDG-PET/CT and ⁶⁸Ga-PET/CT, resulting in a suspicion of bronchial hamartoma.Interventions:The patient underwent surgery and a salivary gland-like lung tumor was diagnosed.Outcomes:After surgery, the patient was referred to our cancer center, where a review of the histology slides gave a final diagnosis of ALK-negative lung IMT. Given the histology, it was decided not to administer adjuvant therapy and the patient was placed in a 3-monthly follow-up program. The patient is still disease-free 2 years post-surgery.Lessons:Although there is no standard of care for the treatment of IMT, identifying genomic alterations could help to redefine the management of patients with negative-ALK disease. Our review of the literature on IMT and other kinase fusions revealed, in addition to ALK rearrangements, the potential association of ROS1, NTRK, RET, or PDGFR beta alterations with the tumor.     

Sweet's syndrome and intestinal inflammatory disease. A case report and review of the literature

Sweet's syndrome, or febrile neutrophilic dermatosis, is a process characterized by fever, red tender plaques, neutrophilia and neutrophilic dermal infiltrate with papilar edema in the absence of vasculitis. The association with intestinal inflammatory disease is inusual, a new case associated with ulcerative colitis is reported, and we perform a literature review of Sweet's associated intestinal inflammatory disease.